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Itpr3 Gene Detail
Summary
  • Symbol
    Itpr3
  • Name
    inositol 1,4,5-triphosphate receptor 3
  • Synonyms
    Ip3r3, Itpr-3, tf
  • Feature Type
    protein coding gene
  • IDs
    MGI:96624
    NCBI Gene: 16440
  • Gene Overview
    MyGene.info: ITPR3
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr17:27057304-27122223 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      64920 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 13.68 cM
  • Mapping Data
    64 experiments
Homology
more
  • Human Ortholog
    ITPR3, inositol 1,4,5-trisphosphate receptor type 3
  • Vertebrate Orthologs
    8
  • Human Ortholog
    ITPR3, inositol 1,4,5-trisphosphate receptor type 3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    IP3R, IP3R3
  • Links
    NCBI Gene ID: 3710
    neXtProt AC: NX_Q14573
    UniProt: Q14573

  • Chr Location
    6p21.31; chr6:33621333-33696574 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Itpr3 mouse models; 1 with human ITPR3 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    25 phenotypes from 5 alleles in 6 genetic backgrounds
    27 phenotypes from multigenic genotypes
    1 images
    72 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele are viable and fertile and exhibit no apparent abnormalities in pancreatic and salivary secretion. However, one mutation in this gene results in alternating abnormal hair loss and normal hair growth throughout the life of the mouse and low sweet preference.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000031360 VEGA Gene Model | MGI Sequence Detail 64920 C57BL/6J ±  kb
    transcript OTTMUST00000077693 VEGA | MGI Sequence Detail 8990 Not Applicable  
    polypeptide OTTMUSP00000041150 VEGA | MGI Sequence Detail 2670 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      596 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 98
      cDNA 97
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-11440, MGD-MRK-11507, MGD-MRK-11509, MGD-MRK-15043, MGI:98711
    References
    more
    • Summaries
      All 176
      Developmental Gene Expression 14
      Diseases 3
      Gene Ontology 18
      Phenotypes 72
    • Earliest
      J:273 Lyon MF, Hereditary hair loss in the tufted mutant of the house mouse. J Hered. 1956;47:101-3
    • Latest
      J:261524 Poitelon Y, et al., A dual role for Integrin alpha6beta4 in modulating hereditary neuropathy with liability to pressure palsies. J Neurochem. 2018 May;145(3):245-257

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    09/11/2018
    MGI 6.12
    The Jackson Laboratory